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Lint: progressive-myoclonic-epilepsy

List Caps
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"Lafora body disease (EPM2)"

Line 4:11 · In general, we don't start a list item with a capital letter. Exceptions are proper nouns.
Acronyms
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"AB variant of GM2 gangliosidosis"

Line 17:11 · 'AB' has no definition. Spell it out if it's unfamiliar to the audience.